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Page 1
NEMO mutations in 2 unrelated boys with severe infections and conical teeth.
Ku CL, Dupuis-Girod S, Dittrich AM, Bustamante J, Santos OF, Schulze I, Bertrand Y, Couly G, Bodemer C, Bossuyt X, Picard C, Casanova JL. Ku CL, et al. Among authors: bossuyt x. Pediatrics. 2005 May;115(5):e615-9. doi: 10.1542/peds.2004-1754. Epub 2005 Apr 15. Pediatrics. 2005. PMID: 15833888
Invasive pneumococcal disease in children can reveal a primary immunodeficiency.
Gaschignard J, Levy C, Chrabieh M, Boisson B, Bost-Bru C, Dauger S, Dubos F, Durand P, Gaudelus J, Gendrel D, Gras Le Guen C, Grimprel E, Guyon G, Jeudy C, Jeziorski E, Leclerc F, Léger PL, Lesage F, Lorrot M, Pellier I, Pinquier D, de Pontual L, Sachs P, Thomas C, Tissières P, Valla FV, Desprez P, Frémeaux-Bacchi V, Varon E, Bossuyt X, Cohen R, Abel L, Casanova JL, Puel A, Picard C. Gaschignard J, et al. Among authors: bossuyt x. Clin Infect Dis. 2014 Jul 15;59(2):244-51. doi: 10.1093/cid/ciu274. Epub 2014 Apr 23. Clin Infect Dis. 2014. PMID: 24759830 Free PMC article.
Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity.
Ku CL, von Bernuth H, Picard C, Zhang SY, Chang HH, Yang K, Chrabieh M, Issekutz AC, Cunningham CK, Gallin J, Holland SM, Roifman C, Ehl S, Smart J, Tang M, Barrat FJ, Levy O, McDonald D, Day-Good NK, Miller R, Takada H, Hara T, Al-Hajjar S, Al-Ghonaium A, Speert D, Sanlaville D, Li X, Geissmann F, Vivier E, Maródi L, Garty BZ, Chapel H, Rodriguez-Gallego C, Bossuyt X, Abel L, Puel A, Casanova JL. Ku CL, et al. Among authors: bossuyt x. J Exp Med. 2007 Oct 1;204(10):2407-22. doi: 10.1084/jem.20070628. Epub 2007 Sep 24. J Exp Med. 2007. PMID: 17893200 Free PMC article.
IRAK-4 and MyD88 deficiencies impair IgM responses against T-independent bacterial antigens.
Maglione PJ, Simchoni N, Black S, Radigan L, Overbey JR, Bagiella E, Bussel JB, Bossuyt X, Casanova JL, Meyts I, Cerutti A, Picard C, Cunningham-Rundles C. Maglione PJ, et al. Among authors: bossuyt x. Blood. 2014 Dec 4;124(24):3561-71. doi: 10.1182/blood-2014-07-587824. Epub 2014 Oct 15. Blood. 2014. PMID: 25320238 Free PMC article. Clinical Trial.
A novel hypomorphic mutation in STIM1 results in a late-onset immunodeficiency.
Schaballie H, Rodriguez R, Martin E, Moens L, Frans G, Lenoir C, Dutré J, Canioni D, Bossuyt X, Fischer A, Latour S, Meyts I, Picard C. Schaballie H, et al. Among authors: bossuyt x. J Allergy Clin Immunol. 2015 Sep;136(3):816-819.e4. doi: 10.1016/j.jaci.2015.03.009. Epub 2015 Apr 30. J Allergy Clin Immunol. 2015. PMID: 25935105 No abstract available.
Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency.
Picard C, von Bernuth H, Ghandil P, Chrabieh M, Levy O, Arkwright PD, McDonald D, Geha RS, Takada H, Krause JC, Creech CB, Ku CL, Ehl S, Maródi L, Al-Muhsen S, Al-Hajjar S, Al-Ghonaium A, Day-Good NK, Holland SM, Gallin JI, Chapel H, Speert DP, Rodriguez-Gallego C, Colino E, Garty BZ, Roifman C, Hara T, Yoshikawa H, Nonoyama S, Domachowske J, Issekutz AC, Tang M, Smart J, Zitnik SE, Hoarau C, Kumararatne DS, Thrasher AJ, Davies EG, Bethune C, Sirvent N, de Ricaud D, Camcioglu Y, Vasconcelos J, Guedes M, Vitor AB, Rodrigo C, Almazán F, Méndez M, Aróstegui JI, Alsina L, Fortuny C, Reichenbach J, Verbsky JW, Bossuyt X, Doffinger R, Abel L, Puel A, Casanova JL. Picard C, et al. Among authors: bossuyt x. Medicine (Baltimore). 2010 Nov;89(6):403-425. doi: 10.1097/MD.0b013e3181fd8ec3. Medicine (Baltimore). 2010. PMID: 21057262 Free PMC article.
Exome and genome sequencing for inborn errors of immunity.
Meyts I, Bosch B, Bolze A, Boisson B, Itan Y, Belkadi A, Pedergnana V, Moens L, Picard C, Cobat A, Bossuyt X, Abel L, Casanova JL. Meyts I, et al. Among authors: bossuyt x. J Allergy Clin Immunol. 2016 Oct;138(4):957-969. doi: 10.1016/j.jaci.2016.08.003. J Allergy Clin Immunol. 2016. PMID: 27720020 Free PMC article. Review.
383 results